Thalassemia in Sub-Saharan Africa: epidemiology, diagnosis, and management - a narrative review

Abstract

Thalassemia is a hereditary blood disorder characterized by the reduced production of hemoglobin, leading to anemia and related complications. In Sub-Saharan Africa, the prevalence of thalassemia, particularly beta-thalassemia, is significant due to genetic predisposition and historical factors such as malaria endemicity. Despite the increasing awareness of the disease, thalassemia continues to be a major public health challenge in the region. Early diagnosis, effective management, and prevention strategies are limited by factors such as poor health care infrastructure, a lack of skilled professionals, and insufficient access to necessary medical treatments. This review article explores the epidemiology, diagnostic approaches, and current management practices for thalassemia in Sub-Saharan Africa. The high prevalence of thalassemia carriers in the region, particularly in malaria-endemic areas, highlights the need for genetic counseling and prenatal screening programs. Furthermore, diagnostic techniques such as hemoglobin electrophoresis and DNA testing are often underutilized due to logistical and financial constraints, leading to late diagnoses and suboptimal care. Treatment options, including blood transfusions and iron chelation therapy, remain inadequate in many parts of Sub-Saharan Africa due to the limited availability of health care resources.

Keywords: Sub-Saharan Africa; diagnosis; epidemiology; management; thalassemia.